Ava's story

Ava Sarah Ryan was born on 27th January 2009 after a full term pregnancy and normal delivery. She weighed 7 lbs 8 oz and cried on arrival. The only complication during pregnancy was gestational diabetes which was controlled by diet. Ava had feeding difficulties from birth. She was admitted to hospital in Galway, Ireland when she was 2 weeks old due to failure to thrive. Ava slept a lot and often had to be woken to feed. She was a very placid baby and rarely cried. A speech therapy assessment determined that Ava had poor suck swallow coordination – a dysfunctional suck. It was noted that Ava had a high arch palate. She was fed via a Nasal Gastric tube for 2 – 3 weeks and began to gain weight. Her feed was changed to Infatrini – a high calorie milk. Speech therapy also recommended the use of the Haberman bottle (designed for children with special needs.) This worked very well for Ava and her feeding improved.

She had some reflux which caused her a lot of discomfort and this was accompanied by periods of intense crying. She was put on Infant Gaviscon which helped.

Ava had her first seizure when she was 6 weeks old. During this seizure Ava raised her arms, her body stiffened and her eyes flickered, deviating to the side. Ava was readmitted to hospital. Initially doctors felt the seizures were febrile as it was found that she had a urinary tract infection. However, even when the infection cleared Ava’s seizures continued. At this stage she was having 1 – 2 seizures per day, although some days were seizure free. She had a cranial ultrasound, an MRI scan and EEG which were normal. All blood work, chromosomal testing and a lumbar puncture came back normal. Ava was commenced on phenobarbitone in March 2009 and transferred to Temple Street Hospital, Dublin for further investigations. She was now under the care of Professor Mary King, consultant paediatric neurologist.

Prof King’s initial concerns were around Ava’s head circumference which had not grown at the rate it should have since her birth. Ava was diagnosed with post natal microcephaly. A second EEG was normal. Ava underwent extensive genetic and metabolic testing. All results were normal. Ava’s seizures continued when she went home, although she did have a period of 2 weeks without seizures. Ava was now on phenobarbitone and clonazepam. Her seizures remained drug resistant. She was readmitted to hospital in Galway when she started to develop apnea during her seizures. She was in hospital for one month. During this time Ava developed the chicken pox, bronchilitis and pneumonia. Ava was started on carbamazepine.

In July 2009 she was again transferred to Dublin for further testing. More genetic and metabolic testing was carried out. Ava was taken off phenobarbitone and was commenced on theketogenic diet. She was on the diet for approximately one month with no success. Her seizures continued, anywhere between 5 and 15 per day. Further EEG’s were abnormal but showed no specific pattern. Ava’s drug combination was changed again – phenytoin was added, followed by Epilim, Topamax and Keppra. Her seizures remained but became less severe and she no longer stopped breathing during seizures.

An EEG carried out in September 2009 showed that Ava’s seizures migrate from one part of her brain to another.Ava was diagnosed with Migrating Partial Epilepsy of Infancy on 23rd September 2009. The EEG also showed that Ava was having many sub clinical seizures – abnormal electrical discharges that don’t manifest in a physical seizure. Ava’s seizures although less severe, became more frequent and involved eye flickering/deviating, flushing of the face and some stiffening of the limbs. She sometimes exhibited a slight tremor in her hands, lip smacking and salivation. They lasted 30 – 90 seconds, came in clusters and were too frequent to count. Her most recent drug combination was - keppra, phenytoin, epilim and clonazepam. In the event of prolonged seizures Ava’s rescue drugs were – diazepam, lorazepam or fosphenytoin.

During September 09, Ava experienced very serious pneumonia during which she was in intensive care. Her neurologist felt that she might not survive but the little fighter pulled through. They tried to put Ava on a ventilator but she coughed out the tube! After this setback, she remained on constant oxygen due to oxygen desaturations and on a daily diuretic to prevent fluid retention. She was now NJ fed (via the jejunum instead of the stomach due to reflux and aspiration). Ava needed a “fundoplication” but she was just not strong enough for this surgery. She was also having difficulty regulating her body temperature and frequently spiked temperatures up to 39°C.

Ava’s development was seriously affected by her condition. She had poor head control, could not sit up, roll over, crawl or hold objects in her hands. She was able to smile (although not consistently), fix and follow and lift up her head up slightly when put on her stomach but these skills were lost during her pneumonia. Ava had a cortical visual impairment. Her mom suspected visual problems very early on. Ava would stare into space, often had poor eye contact and would not fix and follow consistently. If an object was held in front of her she would follow it with her eyes (left to right, up and down) but would not move her head to follow it when it was moved further away. She would look at people and objects up close but would not look at nor watch things at a distance and often appeared disinterested in her environment.

Ava’s response to sound was also inconsistent. She startled to sound and would often smile and attempt to “coo” when spoken to. Whistling usually produced a smile! However, if you called her name or tried to get her attention vocally she wouldn’t really turn to the direction of your voice. Ava was always been more interested in her hands than toys and would “wring” and chew them constantly. Ava appeared to have regressed since the pneumonia. She stopped fixing and following and when she looked in your direction it was difficult to tell if she had focused on you. She had minimal movement of her arms and legs and could not weight bear. She was very floppy/hypotonic.

However, Ava she could still vocalise/make sounds and this was music to her mommy and daddy’s ears! She was a feisty little thing and constantly tried to knock off her oxygen mask! She would wriggle and give out to any bold doctor that tried to take blood from her! Princess Ava was and always will be adored and cherished by her mommy Angeline, her daddy Bryan and her big brother Calum. She has grandparents, aunties, uncles and cousins who loved her dearly and miss her so much. Ava was and still is a little angel. She had an amazing spirit; she was so brave and full of love. Ava’s mommy and daddy loved her more than she will ever know. It is amazing how a little girl who had never uttered a word made so many people fall in love with her…

Ava had big, beautiful dark green eyes and she had the longest eyelashes ever (everyone thought that mom curled them but she really didn’t!) Miss Ava loved kisses and cuddles and loved mommy running her fingers through her hair. She was the spitting image of her daddy and definitely “daddy’s girl” (And mommy’s too!) Ava was the most special girl in Temple Street Hospital and was an obvious favourite of all the nurses (Shhh, don’t tell the other babies!) She was the “Posh Spice” of Temple Street and was so on trend fashion wise (thanks to the Bank of Dad, and her personal stylist…Mom!) On the 16th of October 2009 Ava's nurses and doctors became concerned. They couldn't bring her temperature down and her breathing was becoming shallow and laboured.

Her heart had started pumping very fast but inefficiently and she was on full oxygen. They were losing Ava. Her mom cradled her and told her over and over how much she loved her, and Ava passed away peacefully in her arms.

Ava taught everyone who met her so much about life, love and strength
in her few short months. She will be loved and missed forever. Ava’s
mommy and daddy would like to express their heartfelt thanks and
appreciation to Professor Mary King and the nurses and doctors of St.
Patrick’s Ward, Temple Street Children’s Hospital. The nurses who
looked after Ava are so amazing and cared for her so wonderfully. She
definitely won a place in all their hearts and she loved all her
“aunties” very much! They have been so supportive to Ava’s mommy and
have wiped away many, many tears. It was always so reassuring knowing
that our little girl was in such good hands. Ava's mommy and daddy
would also like to thank Dr. Mary Herzig and the nurses and doctor's in
St. Bernadette's ward, University Hospital Galway for the love and care
they gave to Ava.